language-icon Old Web
English
Sign In

Adenosine deaminase deficiency

Adenosine deaminase deficiency is an autosomal recessive metabolic disorder that causes immunodeficiency. It occurs in fewer than one in 100,000 live births worldwide. peripheral: Purine nucleoside phosphorylase deficiency Adenosine deaminase deficiency is an autosomal recessive metabolic disorder that causes immunodeficiency. It occurs in fewer than one in 100,000 live births worldwide. It accounts for about 15% of all cases of severe combined immunodeficiency (SCID).ADA deficiency may be present in infancy, childhood, adolescence, or adulthood. Age of onset and severity is related to some 29 known genotypes associated with the disorder.

[ "Adenosine deaminase", "Genetic enhancement", "Severe combined immunodeficiency", "Strimvelis", "Cat eye syndrome chromosome region" ]
Parent Topic
Child Topic
    No Parent Topic